Physiopathologie des maladies neuromusculaires
Chef d'équipe : Jocelyn LAPORTE
Département : Médecine translationnelle et neurogénétique
Valérie BIANCALANA
Chercheuse
valerie.biancalana@igbmc.fr
Équipe(s)
Sous-groupe(s)
Bases génétiques des myopathies
Responsable : Valérie BIANCALANA
Équipe(s) : Physiopathologie des maladies neuromusculaires
Publications
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2018
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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
- Macarena Cabrera-Serrano
- Fabiola Mavillard
- Valerie Biancalana
- Eloy Rivas
- Bharti Morar
- Aurelio Hernandez-Lain
- Montse Olive
- Nuria Muelas
- Eduardo Khan
- Alejandra Carvajal
- Pablo Quiroga
- Jordi Diaz-Manera
- Mark Davis
- Rainiero Avila
- Cristina Dominguez
- Norma Romero
- Juan Vilchez
- David Comas
- Nigel Laing
- Jocelyn Laporte
- ...
Neurology ; Volume: 91 ; Page: 339-348
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2017
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Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
- E. Malfatti
- X. Lornage
- C. Chéraud
- R. Schneider
- V. Biancalana
- J. Cuisset
- M. Garibaldi
- B. Eymard
- M. Fardeau
- A. Boland
- J. Deleuze
- J. Thompson
- J. Böhm
- N. Romero
- J. Laporte
Neuromuscular Disorders ; Volume: 27 ; Page: S185
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- Vanessa Schartner
- Norma Romero
- Sandra Donkervoort
- Susan Treves
- Pinki Munot
- Tyler Pierson
- Ivana Dabaj
- Edoardo Malfatti
- Irina Zaharieva
- Francesco Zorzato
- Osario Abath Neto
- Guy Brochier
- Xavière Lornage
- Bruno Eymard
- Ana Taratuto
- Johann Böhm
- Hernan Gonorazky
- Leigh Ramos-Platt
- Lucy Feng
- Rahul Phadke
- ...
Acta Neuropathologica ; Volume: 133 ; Page: 517-533
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Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
- Carlyn Kouwenberg
- Johann Bohm
- Corrie Erasmus
- Irene van Balken
- Sandra Vos
- Benno Kusters
- Erik Kamsteeg
- Valerie Biancalana
- Catherine Koch
- Nicolas Dondaine
- Jocelyn Laporte
- Nicol Voermans
Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355
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HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
- Yon Andoni Echaniz-Laguna
- Xavière Lornage
- Beatrice Lannes
- Raphael Schneider
- Guillaume Bierry
- Nicolas Dondaine
- Anne Boland
- J Deleuze
- Johann Bohm
- Julie D. Thompson
- Jocelyn Laporte
- Valerie Biancalana
Acta Neuropathologica ; Volume: 134 ; Page: 163-165
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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
- Osorio Abath Neto
- Carlos Heise
- Cristiane de Araújo Martins Moreno
- Eduardo de Paula Estephan
- Lilia Mesrob
- Doris Lechner
- Anne Boland
- Jean-François Deleuze
- Acary Souza Bulle Oliveira
- Umbertina Reed
- Valerie Biancalana
- Jocelyn Laporte
- Edmar Zanoteli
Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127
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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
- Xavière Lornage
- Edoardo Malfatti
- Raphael Schneider
- Valerie Biancalana
- Jean Cuisset
- Matteo Garibaldi
- Bruno Eymard
- Michel Fardeau
- Anne Boland
- Jean Deleuze
- Julie D. Thompson
- Robert Carlier
- Johann Bohm
- Norma Romero
- Jocelyn Laporte
Ann Neurol ; Volume: 81 ; Page: 467-473
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2016
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A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
- O. Abath Neto
- M. R. Silva
- A. Martins Cde
- S. Oliveira Ade
- U. C. Reed
- Valérie Biancalana
- J. B. Pesquero
- Jocelyn Laporte
- E. Zanoteli
Pediatric neurology ; Volume: 58 ; Page: 107-12
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2015
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Clinical massively parallel sequencing for the diagnosis of myopathies
- Svetlana Gorokhova
- Valerie Biancalana
- Nicolas Lévy
- Jocelyn Laporte
- Marc Bartoli
- Martin Krahn
Revue Neurologique ; Volume: 171 ; Page: 558-571
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Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis
- Valérie Biancalana
- Jocelyn Laporte
Journal of Neuromuscular Diseases ; Volume: 2 ; Page: 193-203
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